We’re thrilled to announce that SETBP1 Society has secured a $25,000 donation match from a generous donor for our SETBP1Strong Team—and that means every dollar you give now goes twice as far to accelerate research for SETBP1 haploinsufficiency disorder and related disorders!

Whether you’re a longtime supporter or just learning about SETBP1, now is the perfect time to donate or start your own fundraising page to help us reach our goal.

Join Us for the 2025 Million Dollar Bike Ride!

The University of Pennsylvania Orphan Disease Center (UPenn ODC) and SETBP1 Society invite you to be part of this inspiring annual event that brings together rare disease families, friends, and supporters to raise funds and awareness.

This year’s Million Dollar Bike Ride will be in-person in Philadelphia, with a virtual ride/walk option for supporters around the globe!

📍 Event Details:
Date: Saturday, June 14, 2025
Location: Philadelphia, PA (or virtually from anywhere!)
What You Can Do: Cycle or walk with us, fundraise, donate—or all three!

💯 100% of registration and fundraising proceeds go directly to SETBP1 research.

Why We Ride

This marks our 7th year participating as the SETBP1Strong Team, and every year we grow stronger thanks to the incredible support of our community. The funds we raise are making a real impact in advancing scientific research and supporting families affected by SETBP1-HD and related disorders.

Get Involved

Whether you’re ready to ride, walk, donate, or simply spread the word, there’s a way for everyone to participate:

🔗 Register or donate today!
Visit our Million Dollar Bike Ride page at SETBP1 Society or check out the full event details at the UPenn ODC MDBR page.

Let’s make 2025 our biggest year yet. Join the SETBP1Strong Team—and double your impact with our $25,000 match!

Registration is now OPEN!

The post Big News: $25,000 Donation Match for the SETBP1Strong Team at the 2025 Million Dollar Bike Ride! appeared first on SETBP1 Society.

What We Know About SETBP1-HD

SETBP1-HD is caused by changes in the SETBP1 gene, which plays a critical role in early brain development. Individuals with SETBP1-HD are haploinsufficient, meaning they have a loss of function in one copy of the gene, which results in the clinical manifestations of the disorder.

Thanks to years of collaboration between researchers, clinicians, and families, we now have a deeper understanding of the clinical spectrum of SETBP1-HD. In addition, scientists have developed cell lines and a growing number of animal models that are currently being characterized—crucial steps in identifying therapeutic targets.

We also recognize individuals who carry SETBP1 gene changes but present with overlapping features or uncertain molecular consequences. These individuals are classified as having SETBP1-related disorders (SETBP1-RD) and are a critical part of our research focus as well.

Our 2025 Research Strategy

To highlight our priorities and progress, we’ve developed a research strategy infographic (see above) outlining where we are now and where we’re headed. This framework reflects our current priorities as of May 2025, and emphasizes a full spectrum of research initiatives—from foundational discovery to real-world clinical application.

Key focus areas include:

• Foundational Science: Understanding SETBP1’s role in brain development and cellular function
• Model Development and Characterization: Utilizing cellular and animal models to uncover disease mechanisms
• Preclinical Research: Identifying and testing candidate therapies in laboratory settings
• Clinical Research: Designing and conducting studies that evaluate safety and effectiveness in humans
• Long-Term Monitoring: Building data systems and natural history studies to track outcomes over time

Each of these areas is essential to our long-term goal: identifying safe and effective treatments for individuals with SETBP1-HD.

Our Commitment

SETBP1 Society is deeply committed to transparency, collaboration, and education. We will continue to provide regular updates on our research strategy and actively support initiatives that move us closer to clinical solutions. Through strong partnerships and a unified community, we believe progress is not only possible—it’s already happening.

Together, we are SETBP1Strong.

Authored by Jordan Whitlock, PD – SETBP1 Society Science Coordinator

The post SETBP1 Society Research Strategy: A Roadmap Toward Treatments and Therapeutics appeared first on SETBP1 Society.

The post Looking back – SETBP1 Society & SETBP1-HD Timeline appeared first on SETBP1 Society.